Incidental Mutation 'R9249:Ppfia2'
ID 701444
Institutional Source Beutler Lab
Gene Symbol Ppfia2
Ensembl Gene ENSMUSG00000053825
Gene Name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2
Synonyms Liprin-alpha2, E130120L08Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 106305129-106769329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106749429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1105 (V1105A)
Ref Sequence ENSEMBL: ENSMUSP00000151545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029404] [ENSMUST00000217854]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000029404
AA Change: V1104A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
AA Change: V1104A

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
coiled coil region 32 80 N/A INTRINSIC
coiled coil region 102 150 N/A INTRINSIC
coiled coil region 189 234 N/A INTRINSIC
coiled coil region 267 541 N/A INTRINSIC
low complexity region 576 587 N/A INTRINSIC
low complexity region 616 631 N/A INTRINSIC
coiled coil region 643 691 N/A INTRINSIC
low complexity region 702 725 N/A INTRINSIC
SAM 895 964 6.27e-10 SMART
low complexity region 965 977 N/A INTRINSIC
SAM 1017 1084 1.69e-6 SMART
SAM 1105 1177 6.62e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217854
AA Change: V1105A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,220,165 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,733,690 (GRCm39) F1650S probably damaging Het
Bscl2 A T 19: 8,820,378 (GRCm39) D133V probably damaging Het
Cacna1c T C 6: 118,590,288 (GRCm39) Y1564C Het
Ccdc182 T C 11: 88,185,178 (GRCm39) V86A probably benign Het
Cd44 T G 2: 102,661,747 (GRCm39) T616P possibly damaging Het
Cep152 C T 2: 125,405,904 (GRCm39) E1543K probably benign Het
Chpf2 C A 5: 24,794,235 (GRCm39) T135K probably damaging Het
Cntn4 C T 6: 106,466,722 (GRCm39) P208L possibly damaging Het
Col6a3 T A 1: 90,707,020 (GRCm39) Y2638F unknown Het
Csmd2 C A 4: 128,313,323 (GRCm39) Y1333* probably null Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dbndd2 T C 2: 164,328,077 (GRCm39) probably benign Het
Ecpas T C 4: 58,869,427 (GRCm39) K280R probably damaging Het
Egfl8 C A 17: 34,833,491 (GRCm39) A133S probably benign Het
Fasn T C 11: 120,703,915 (GRCm39) H1475R probably benign Het
Gdpd5 T C 7: 99,107,989 (GRCm39) L522P probably damaging Het
Gzmd T G 14: 56,368,790 (GRCm39) M35L probably damaging Het
Herc2 T A 7: 55,762,890 (GRCm39) L873Q probably damaging Het
Hsd3b6 T C 3: 98,713,679 (GRCm39) K207E probably benign Het
Ikbkb T A 8: 23,171,735 (GRCm39) K171* probably null Het
Il21 T A 3: 37,279,677 (GRCm39) probably null Het
Itga1 T C 13: 115,185,834 (GRCm39) N56S probably damaging Het
Map1lc3b T C 8: 122,322,833 (GRCm39) probably null Het
Mapk13 A G 17: 28,988,490 (GRCm39) Y36C probably damaging Het
Myh3 C T 11: 66,975,855 (GRCm39) P296S probably benign Het
Myo5a A G 9: 75,097,279 (GRCm39) N1319S possibly damaging Het
Myot T C 18: 44,479,265 (GRCm39) V334A probably benign Het
Ncor2 T C 5: 125,186,988 (GRCm39) E12G unknown Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nphs2 G A 1: 156,144,416 (GRCm39) R140Q probably damaging Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nvl A G 1: 180,962,593 (GRCm39) Y126H probably damaging Het
Or1j14 T C 2: 36,417,559 (GRCm39) I45T probably damaging Het
Or5w1 A T 2: 87,486,660 (GRCm39) F202I probably benign Het
Or8g29-ps1 T A 9: 39,200,602 (GRCm39) N195Y unknown Het
Or8g36 A T 9: 39,422,149 (GRCm39) I289N probably damaging Het
Osbpl8 T A 10: 111,122,012 (GRCm39) D651E probably benign Het
Papola T A 12: 105,799,403 (GRCm39) H677Q probably benign Het
Pcbp3 T C 10: 76,635,377 (GRCm39) S59G probably benign Het
Pkd1l2 T A 8: 117,746,159 (GRCm39) I1944F probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Polb A T 8: 23,143,084 (GRCm39) N37K probably benign Het
Ric3 C T 7: 108,647,212 (GRCm39) D204N probably damaging Het
Scn8a A G 15: 100,914,456 (GRCm39) D1154G probably benign Het
Sdk1 C A 5: 142,129,550 (GRCm39) N1590K probably damaging Het
Sec31a C A 5: 100,533,083 (GRCm39) R163L probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3i C T 12: 104,231,728 (GRCm39) Q122* probably null Het
Sgo2b A C 8: 64,391,407 (GRCm39) Y153* probably null Het
Sgsm1 T A 5: 113,428,201 (GRCm39) H329L possibly damaging Het
Sh3tc2 A C 18: 62,107,598 (GRCm39) N203T possibly damaging Het
Skint8 C A 4: 111,794,159 (GRCm39) T183K probably damaging Het
Slc6a20a T C 9: 123,507,941 (GRCm39) probably benign Het
Slc8a2 T C 7: 15,891,156 (GRCm39) F732S probably damaging Het
Spata16 T C 3: 26,787,030 (GRCm39) V236A possibly damaging Het
Stard5 A G 7: 83,281,253 (GRCm39) D2G probably damaging Het
Stk25 T C 1: 93,552,806 (GRCm39) S328G probably benign Het
Tmem39b A T 4: 129,572,468 (GRCm39) M378K probably damaging Het
Tspan10 T C 11: 120,337,051 (GRCm39) F274L probably benign Het
Tssk1 A T 16: 17,712,724 (GRCm39) I170L probably benign Het
Vmn1r6 A G 6: 56,979,760 (GRCm39) R141G probably benign Het
Wdfy3 A G 5: 101,996,359 (GRCm39) S3168P possibly damaging Het
Zfp458 T A 13: 67,405,218 (GRCm39) H407L probably damaging Het
Other mutations in Ppfia2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Ppfia2 APN 10 106,655,353 (GRCm39) missense probably benign 0.25
IGL01296:Ppfia2 APN 10 106,694,068 (GRCm39) missense probably damaging 0.98
IGL01385:Ppfia2 APN 10 106,749,560 (GRCm39) missense probably damaging 1.00
IGL01592:Ppfia2 APN 10 106,671,909 (GRCm39) splice site probably benign
IGL01899:Ppfia2 APN 10 106,751,612 (GRCm39) critical splice donor site probably null
IGL02063:Ppfia2 APN 10 106,740,706 (GRCm39) missense probably null 0.83
IGL02143:Ppfia2 APN 10 106,693,360 (GRCm39) missense probably damaging 1.00
IGL02170:Ppfia2 APN 10 106,636,646 (GRCm39) missense probably benign
IGL02565:Ppfia2 APN 10 106,699,247 (GRCm39) critical splice donor site probably null
IGL02573:Ppfia2 APN 10 106,664,789 (GRCm39) missense probably damaging 1.00
IGL02819:Ppfia2 APN 10 106,742,255 (GRCm39) missense probably damaging 1.00
IGL02974:Ppfia2 APN 10 106,636,637 (GRCm39) missense probably benign 0.08
IGL03165:Ppfia2 APN 10 106,603,348 (GRCm39) missense probably damaging 1.00
IGL03255:Ppfia2 APN 10 106,732,368 (GRCm39) missense possibly damaging 0.76
Colorless UTSW 10 106,749,455 (GRCm39) missense probably damaging 1.00
PIT4458001:Ppfia2 UTSW 10 106,763,708 (GRCm39) missense probably benign 0.24
R0018:Ppfia2 UTSW 10 106,678,647 (GRCm39) splice site probably benign
R0018:Ppfia2 UTSW 10 106,678,647 (GRCm39) splice site probably benign
R0323:Ppfia2 UTSW 10 106,732,281 (GRCm39) missense possibly damaging 0.84
R0391:Ppfia2 UTSW 10 106,666,575 (GRCm39) splice site probably benign
R0667:Ppfia2 UTSW 10 106,749,555 (GRCm39) missense probably damaging 0.97
R0782:Ppfia2 UTSW 10 106,763,592 (GRCm39) missense probably benign 0.32
R0905:Ppfia2 UTSW 10 106,655,372 (GRCm39) missense probably benign 0.43
R1401:Ppfia2 UTSW 10 106,666,518 (GRCm39) missense possibly damaging 0.94
R1672:Ppfia2 UTSW 10 106,666,429 (GRCm39) missense possibly damaging 0.53
R1723:Ppfia2 UTSW 10 106,751,533 (GRCm39) splice site probably null
R1780:Ppfia2 UTSW 10 106,732,368 (GRCm39) missense possibly damaging 0.76
R1847:Ppfia2 UTSW 10 106,763,571 (GRCm39) missense probably benign 0.16
R2015:Ppfia2 UTSW 10 106,310,538 (GRCm39) missense probably benign 0.01
R2051:Ppfia2 UTSW 10 106,673,160 (GRCm39) missense probably damaging 0.98
R2061:Ppfia2 UTSW 10 106,673,190 (GRCm39) missense possibly damaging 0.94
R2115:Ppfia2 UTSW 10 106,597,972 (GRCm39) missense probably damaging 1.00
R2310:Ppfia2 UTSW 10 106,690,841 (GRCm39) missense probably damaging 0.99
R2394:Ppfia2 UTSW 10 106,655,351 (GRCm39) missense probably damaging 0.99
R2656:Ppfia2 UTSW 10 106,701,268 (GRCm39) splice site probably null
R3113:Ppfia2 UTSW 10 106,742,256 (GRCm39) nonsense probably null
R3968:Ppfia2 UTSW 10 106,742,382 (GRCm39) missense probably damaging 0.99
R3977:Ppfia2 UTSW 10 106,666,490 (GRCm39) missense possibly damaging 0.69
R3978:Ppfia2 UTSW 10 106,666,490 (GRCm39) missense possibly damaging 0.69
R3979:Ppfia2 UTSW 10 106,666,490 (GRCm39) missense possibly damaging 0.69
R4567:Ppfia2 UTSW 10 106,701,267 (GRCm39) splice site probably null
R4632:Ppfia2 UTSW 10 106,671,905 (GRCm39) splice site probably null
R4718:Ppfia2 UTSW 10 106,694,146 (GRCm39) missense probably damaging 1.00
R4758:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4770:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4810:Ppfia2 UTSW 10 106,751,551 (GRCm39) missense probably benign 0.01
R4841:Ppfia2 UTSW 10 106,690,818 (GRCm39) missense probably benign 0.04
R4842:Ppfia2 UTSW 10 106,690,818 (GRCm39) missense probably benign 0.04
R4914:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4916:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R4917:Ppfia2 UTSW 10 106,597,978 (GRCm39) missense probably damaging 1.00
R5014:Ppfia2 UTSW 10 106,701,224 (GRCm39) nonsense probably null
R5029:Ppfia2 UTSW 10 106,693,304 (GRCm39) missense probably benign 0.04
R5127:Ppfia2 UTSW 10 106,671,621 (GRCm39) missense probably damaging 0.99
R5357:Ppfia2 UTSW 10 106,740,708 (GRCm39) critical splice donor site probably null
R5420:Ppfia2 UTSW 10 106,671,562 (GRCm39) missense possibly damaging 0.88
R6030:Ppfia2 UTSW 10 106,742,338 (GRCm39) missense probably damaging 1.00
R6030:Ppfia2 UTSW 10 106,742,338 (GRCm39) missense probably damaging 1.00
R6135:Ppfia2 UTSW 10 106,693,430 (GRCm39) missense probably damaging 1.00
R6237:Ppfia2 UTSW 10 106,749,455 (GRCm39) missense probably damaging 1.00
R6433:Ppfia2 UTSW 10 106,749,559 (GRCm39) missense possibly damaging 0.94
R6457:Ppfia2 UTSW 10 106,729,361 (GRCm39) missense probably damaging 1.00
R6542:Ppfia2 UTSW 10 106,671,586 (GRCm39) missense probably damaging 0.99
R6674:Ppfia2 UTSW 10 106,763,633 (GRCm39) missense probably benign 0.23
R6746:Ppfia2 UTSW 10 106,742,319 (GRCm39) nonsense probably null
R6992:Ppfia2 UTSW 10 106,310,715 (GRCm39) missense possibly damaging 0.88
R7060:Ppfia2 UTSW 10 106,597,970 (GRCm39) missense probably damaging 1.00
R7346:Ppfia2 UTSW 10 106,693,356 (GRCm39) missense possibly damaging 0.79
R7453:Ppfia2 UTSW 10 106,763,691 (GRCm39) missense possibly damaging 0.82
R7555:Ppfia2 UTSW 10 106,763,687 (GRCm39) missense probably benign 0.00
R7622:Ppfia2 UTSW 10 106,666,520 (GRCm39) missense possibly damaging 0.86
R7637:Ppfia2 UTSW 10 106,701,264 (GRCm39) critical splice donor site probably null
R7866:Ppfia2 UTSW 10 106,655,390 (GRCm39) missense probably damaging 0.97
R7897:Ppfia2 UTSW 10 106,655,399 (GRCm39) missense probably damaging 0.99
R7937:Ppfia2 UTSW 10 106,699,233 (GRCm39) missense probably benign 0.30
R7938:Ppfia2 UTSW 10 106,310,648 (GRCm39) missense probably damaging 0.97
R8218:Ppfia2 UTSW 10 106,699,236 (GRCm39) missense probably benign 0.07
R8431:Ppfia2 UTSW 10 106,671,952 (GRCm39) nonsense probably null
R8806:Ppfia2 UTSW 10 106,694,114 (GRCm39) missense probably damaging 1.00
R8984:Ppfia2 UTSW 10 106,694,439 (GRCm39) intron probably benign
R9008:Ppfia2 UTSW 10 106,655,220 (GRCm39) missense probably benign 0.00
R9014:Ppfia2 UTSW 10 106,763,666 (GRCm39) missense probably benign 0.05
R9182:Ppfia2 UTSW 10 106,763,640 (GRCm39) missense probably benign 0.39
R9201:Ppfia2 UTSW 10 106,678,640 (GRCm39) critical splice donor site probably null
R9620:Ppfia2 UTSW 10 106,749,519 (GRCm39) missense
R9710:Ppfia2 UTSW 10 106,664,885 (GRCm39) missense probably benign 0.00
X0021:Ppfia2 UTSW 10 106,310,538 (GRCm39) missense probably benign 0.06
X0022:Ppfia2 UTSW 10 106,729,295 (GRCm39) missense probably damaging 1.00
Z1176:Ppfia2 UTSW 10 106,310,506 (GRCm39) missense probably damaging 0.97
Z1177:Ppfia2 UTSW 10 106,742,416 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGGATGTATTGCAGCAG -3'
(R):5'- TTAACCAAGGCCCAGTGAAGAG -3'

Sequencing Primer
(F):5'- ATGTATTGCAGCAGAAGTTGATG -3'
(R):5'- CAGCACGAAGGAGCATGCTTG -3'
Posted On 2022-03-25